McCune-Albright syndrome

William F. Schwindinger; Michael A. Levine

doi:10.1016/1043-2760(93)90128-2

McCune-Albright syndrome

William F. Schwindinger, Michael A. Levine

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29 Scopus citations

Abstract

McCune-Albright syndrome (MAS) is characterized by the clinical triad of polyostotic fibrous dysplasia, cafe-au-lait pigmented skin lesions, and multiple endocrinopathies. The molecular basis of MAS is a mutation in G_sα that results in constitutive activation of adenylyl cyclase in affected tissues. This mutation occurs during early embryogenesis, and therefore patients with MAS are mosaic. The identification of activating mutations of Gsa in liver, heart, and gastrointestinal tract of patients with MAS suggests a broader spectrum of clinical disease than previously appreciated.

Original language	English (US)
Pages (from-to)	238-242
Number of pages	5
Journal	Trends in Endocrinology and Metabolism
Volume	4
Issue number	7
DOIs	https://doi.org/10.1016/1043-2760(93)90128-2
State	Published - 1993

ASJC Scopus subject areas

Endocrinology
Endocrinology, Diabetes and Metabolism

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title = "McCune-Albright syndrome",

abstract = "McCune-Albright syndrome (MAS) is characterized by the clinical triad of polyostotic fibrous dysplasia, cafe-au-lait pigmented skin lesions, and multiple endocrinopathies. The molecular basis of MAS is a mutation in Gsα that results in constitutive activation of adenylyl cyclase in affected tissues. This mutation occurs during early embryogenesis, and therefore patients with MAS are mosaic. The identification of activating mutations of Gsa in liver, heart, and gastrointestinal tract of patients with MAS suggests a broader spectrum of clinical disease than previously appreciated.",

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AU - Schwindinger, William F.

AU - Levine, Michael A.

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AB - McCune-Albright syndrome (MAS) is characterized by the clinical triad of polyostotic fibrous dysplasia, cafe-au-lait pigmented skin lesions, and multiple endocrinopathies. The molecular basis of MAS is a mutation in Gsα that results in constitutive activation of adenylyl cyclase in affected tissues. This mutation occurs during early embryogenesis, and therefore patients with MAS are mosaic. The identification of activating mutations of Gsa in liver, heart, and gastrointestinal tract of patients with MAS suggests a broader spectrum of clinical disease than previously appreciated.

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McCune-Albright syndrome

Abstract

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